Reference details

Author	Year	Journal	Pages	Volume	Title	Weblink
Izumoto et al.	1996	Child's Nerv Syst	742-747	12	A new mutation of the L1CAM gene in an X-linked hydrocephalus family	9118141

Mutations mentioned in reference

Protein Domain	Exon/Intron	DNA Change	Protein Change	Type	Reported Classification	Details	LOVD ID
Fn 1	Exon 16	c.1963A>G	p.Lys655Glu	Missense	Disease-causing	Details

Family	# Affected relatives	DNA change	Protein change	Exon/Intron	Clinical features	Remarks
1	unknown	c.1963A>G	p.Lys655Glu	Exon 16	Hydrocephalus, ?